PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. METHODS: By international collaboration, ...
van Rooden, Stephanie M.; van der Werff, Suzanne D.; van Mourik, Maaike S.M.; Lomholt, Frederikke; Møller, Karina Lauenborg; Valk, Sarah; Dos Santos Ribeiro, Carolina; Wong, Albert; Haitjema, Saskia; Behnke, Michael; Rinaldi, Eugenia(BioMed Central Ltd., 2024-09-27)
Automation of surveillance of infectious diseases-where algorithms are applied to routine care data to replace manual decisions-likely reduces workload and improves quality of surveillance. However, various barriers limit ...
Gillespie, Amy L.; Walker, Emma M.; Hannon, Eilis; McQueen, Grant A.; Sendt, Kyra Verena; Avila, Alessia; Lally, John; Okhuijsen-Pfeifer, Cynthia; van der Horst, Marte; Hasan, Alkomiet; Dempster, Emma L.; Burrage, Joe; Bogers, Jan; Cohen, Dan; Boks, Marco P.; Collier, David A.; Egerton, Alice; Luykx, Jurjen J.; Mill, Jonathan; MacCabe, James H.(Nature Publishing Group, 2024-09-27)
The second-generation antipsychotic clozapine is used as a medication for treatment-resistant schizophrenia. It has previously been associated with epigenetic changes in pre-clinical rodent models and cross-sectional studies ...
INTOXICATE Study Investigators Group(Springer Science + Business Media, 2024-09-27)
BACKGROUND: There is currently no practice-based, multicenter database of poisoned patients admitted to intensive care units (ICUs). The INTOXICATE study, endorsed by the ESICM and EAPCCT, aimed to determine the rate of ...
Chan, Chilam; Cabanes, Núria Casalé; Jansen, J H Marco; Guillaume, Joël; Nederend, Maaike; Passchier, Elsemieke M; Gómez-Mellado, Valentina E; Peipp, Matthias; Boes, Marianne; van Tetering, Geert; Leusen, Jeanette H W(Springer Science and Business Media Deutschland GmbH, 2024-10-03)
Recent advances in cancer immunotherapy, particularly the success of immune checkpoint inhibitors, have reignited interest in targeted monoclonal antibodies for immunotherapy. Antibody therapies aim to minimize on-target, ...
Luxi, Nicoletta; Ciccimarra, Francesco; Bellitto, Chiara; Raethke, Monika; van Hunsel, Florence; Lieber, Thomas; Mulder, Erik; L'Abbate, Luca; Marques, Francisco Batel; Furci, Fabiana; Farcas, Andreea; Giele-Eshuis, Janneke; Morton, Kathryn; Sonderlichová, Simona; Thurin, Nicolas H; Villalobos, Felipe; Riefolo, Fabio; Sturkenboom, Miriam C; Trifirò, Gianluca(Multidisciplinary Digital Publishing Institute, 2024-09-17)
Background: Conventional vaccines rarely cause severe allergic reactions. However, the rapid development and approval of COVID-19 vaccines left limited initial data on their adverse reactions, particularly in individuals ...
Azhar, Yasmine el; Schulthess, Pascal; van Oostrom, Marek J.; Weterings, Sonja D.C.; Meijer, Wilke H.M.; Tsuchida-Straeten, Nobuko; Thomas, Wouter M.; Bauer, Marianne; Sonnen, Katharina F.(Company of Biologists Ltd, 2024-09)
The intricate dynamics of Hes expression across diverse cell types in the developing vertebrate embryonic tail have remained elusive. To address this, we have developed an endogenously tagged Hes1-Achilles mouse line, ...
Vision Loss Expert Group of the Global Burden of Disease Study; the GBD 2019 Blindness and Vision Impairment Collaborators(Nature Publishing Group, 2024-08)
Background: We aimed to update estimates of global vision loss due to age-related macular degeneration (AMD). Methods: We did a systematic review and meta-analysis of population-based surveys of eye diseases from January, ...
Li, Lin; Soper, Alice Kelen; McCauley, Dayle; Gorter, Jan Willem; Doucet, Shelley; Greenaway, Jon; Luke, Alison(BioMed Central, 2024-09-27)
BACKGROUND: Poorly supported transitions from pediatric to adult healthcare can lead to negative health outcomes for youth and their families. To better understand the current landscape of healthcare transition care across ...
Trimarchi, Santi; Mandigers, Tim J.; Bissacco, Daniele; Nienaber, Christoph; Isselbacher, Eric M.; Evangelista, Arturo; Suzuki, Toru; Bossone, Eduardo; Pape, Linda A.; Januzzi, James L.; Harris, Kevin M.; O'Gara, Patrick T.; Gilon, Dan; Hutchison, Stuart; Patel, Himanshu J.; Woznicki, Elise M.; Montgomery, Daniel; Kline-Rogers, Eva; Eagle, Kim A.(Mosby Inc., 2024-10)
Objective: The International Registry of Acute Aortic Dissection (IRAD) celebrated its 25th anniversary in January 2021. This study evaluated IRAD's role in promoting the understanding and management of acute aortic ...
Abbott, Natalie Louise; Chauvie, Stephane; Marcu, Loredana; DeJean, Catherine; Melidis, Christos; Wientjes, Rens; Gasnier, Anne; Lisbona, Albert; Luzzara, Marco; Mazzoni, Lorenzo Nicola; O'Doherty, Jim; Koutsouveli, Efi; Appelt, Ane; Hansen, Christian Rønn(Associazione Italiana di Fisica Medica, 2024-10)
The EFOMP working group on the Role of Medical Physics Experts (MPEs) in Clinical Trials was established in 2010, with experts from across Europe and different areas of medical physics. Their main aims were: (1) To develop ...
Winnard, Paul T; Vesuna, Farhad; Bol, Guus M; Gabrielson, Kathleen L; Chenevix-Trench, Georgia; Ter Hoeve, Natalie D; van Diest, Paul J; Raman, Venu(Elsevier Ireland Ltd, 2024-11)
Patients who present with breast cancer bone metastasis only have limited palliative treatment strategies and efficacious drug treatments are needed. In breast cancer patient data, high levels of the RNA helicase DDX3 are ...
Wani, Agaz H.; Katrinli, Seyma; Zhao, Xiang; Daskalakis, Nikolaos P.; Zannas, Anthony S.; Aiello, Allison E.; Baker, Dewleen G.; Boks, Marco P.; Brick, Leslie A.; Chen, Chia Yen; Dalvie, Shareefa; Fortier, Catherine; Geuze, Elbert; Hayes, Jasmeet P.; Kessler, Ronald C.; King, Anthony P.; Koen, Nastassja; Liberzon, Israel; Lori, Adriana; Luykx, Jurjen J.; Maihofer, Adam X.; Milberg, William; Miller, Mark W.; Mufford, Mary S.; Nugent, Nicole R.; Rauch, Sheila; Ressler, Kerry J.; Risbrough, Victoria B.; Rutten, Bart P.F.; Stein, Dan J.; Stein, Murray B.; Ursano, Robert J.; Verfaellie, Mieke H.; Vermetten, Eric; Vinkers, Christiaan H.; Ware, Erin B.; Wildman, Derek E.; Wolf, Erika J.; Nievergelt, Caroline M.; Logue, Mark W.; Smith, Alicia K.; Uddin, Monica(BioMed Central, 2024-09-27)
BACKGROUND: Incorporating genomic data into risk prediction has become an increasingly popular approach for rapid identification of individuals most at risk for complex disorders such as PTSD. Our goal was to develop and ...
van Karnebeek, Clara D.M.; O’Donnell-Luria, Anne; Baynam, Gareth; Baudot, Anaïs; Groza, Tudor; Jans, Judith J.M.; Lassmann, Timo; Letinturier, Mary Catherine V.; Montgomery, Stephen B.; Robinson, Peter N.; Sansen, Stefaan; Mehrian-Shai, Ruty; Steward, Charles; Kosaki, Kenjiro; Durao, Patricia; Sadikovic, Bekim(BioMed Central, 2024-12)
Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary ...
Filz von Reiterdank, I.; Dinicu, A. T.; Rosales, I.; Cetrulo, C. L.; Coert, J. H.; Mink van der Molen, A. B.; Uygun, K.(Nature Publishing Group, 2024-12)
Vascularized composite allografts (VCAs) present unique challenges in transplant medicine, owing to their complex structure and vulnerability to ischemic injury. Innovative preservation techniques are crucial for extending ...
van Vliet, Letty V.; Zonnebeld, Niek; Tordoir, Jan H.; Huberts, Wouter; Bouwman, Lee H.; Cuypers, Philippe W.; Heinen, Stefan G.; Huisman, Laurens C.; Lemson, Susan; Mees, Barend M.E.; Schlösser, Felix J.; de Smet, André A.; Toorop, Raechel J.; Delhaas, Tammo; Snoeijs, Maarten G.(Wichtig Publishing, 2024-09)
Objective: Clinical guidelines provide recommendations on the minimal blood vessel diameters required for arteriovenous fistula creation but the evidence for these recommendations is limited. We compared vascular access ...
(on behalf of the OPTICAL-STAR study team and the Dutch T1 CRC Working Group)(Georg Thieme Verlag, 2024)
Background and study aims: Recognition of T1 colorectal cancer (CRC) is difficult, with sensitivities of 35-60% in Western countries. We evaluated the real-life effects of the implementation of the OPTICAL model, a recently ...
Harlianto, Netanja I.; Harlianto, Zaneta N.(Lippincott Williams & Wilkins, 2024-10-01)
BACKGROUND AND OBJECTIVES: Financial conflicts of interest between editorial board members and industry could lead to biases and impartial editorial decisions. We aimed to evaluate the frequency, amount, and characteristics ...